Facial screening project to assist with early diagnosis of Down syndrome in African children

Problem

Most Western infants born with conditions such as Down syndrome, are diagnosed before or shortly after birth, while their black African counterparts are often only diagnosed at around seven months or older. This is largely because doctors often struggle to see the link between the child’s facial features and the specific condition, owing to differences in how it presents in the facial features of different population groups. This presents a problem, as it is vitally important that these children are diagnosed as early as possible. Early detection not only makes it easier to successfully manage most conditions, but also helps doctors know which other associated conditions to look for and which developmental interventions to recommend to the child’s parents or care-takers. Children who are diagnosed late often miss out on crucial interventions and screenings that could have made an immense difference to their own, and their families’, quality of life.

Solution

Realising that this problem had to be addressed, a team of researchers from the University of Pretoria, headed by Dr Vinet Coetzee from the Facial Morphology Research Group in the Department of Genetics, embarked on a project to identify the specific facial features associated with conditions in African infants and children.

As a starting point, the team needs accurate facial photographs of children with and without the condition. 3D images are ideal for this purpose as they contain information in a range of different dimensions, which enables researchers to identify key facial features more accurately.

A 3D camera setup, wherein all the cameras can be triggered simultaneously, produces images that can be used to build 3D models of the children’s faces. Researchers can then use these 3D models to identify distinct facial features associated with syndromes such as Down, Prader-Willi, Fragile X and Marfan in African infants.

Progress

Dr Coetzee’s team initially built their own 3D camera that successfully produced 3D images, but soon realised that it was not accurate enough for their purposes. Following a successful crowd funding campaign and a generous donation of 10 cameras from Canon, the team are now in the process of constructing a new, purpose built 3D camera for their research.

During the first stage of the project, the team will only focus on identifying the facial features associated with Down syndrome in African children and infants. Once the groundwork has been laid however, they will include more researchers and more conditions in order to reach their ultimate goal of developing a facial screening tool to aid in the diagnosis of a variety of conditions in this population group.